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Purine metabolism and dystonia: Perspectives of a long-promised relationship.
Ann. Neurol. 97, 809-825 (2025)
Dystonia research focuses on the identification of converging biological pathways, allowing to define molecular drivers that serve as treatment targets. We summarize evidence supporting the concept that aberrations in purine metabolism intersect with dystonia pathogenesis. The recent discovery of IMPDH2-related dystonia introduced a gain-of-function paradigm in purinergic system defects, offering new perspectives to understand purine-pool imbalances in brain diseases. We discuss commonalities between known dystonia-linked mechanisms and mechanisms emerging from studies of purine metabolism disorders including Lesch-Nyhan disease. Together, we hypothesize that a greater appreciation of the relevance of purine perturbances in dystonia can offer fresh avenues for therapeutic intervention. ANN NEUROL 2025.
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Publication type
Article: Journal article
Document type
Review
Keywords
Lesch-nyhan-disease; Genetic Mouse Model; Central-nervous-system; Dopamine Deficiency; Adenosine; Neurons; Brain; Disorders; Phenotype; Atp
ISSN (print) / ISBN
0364-5134
e-ISSN
1531-8249
Journal
Annals of Neurology
Quellenangaben
Volume: 97,
Issue: 5,
Pages: 809-825
Publisher
Wiley
Publishing Place
111 River St, Hoboken 07030-5774, Nj Usa
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Neurogenomics (ING)
Grants
Federal Ministry of Education and Research